Variant report

Variant	rs11995194
Chromosome Location	chr8:11328636-11328637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:11328479-11328694	K562	blood:	n/a	chr8:11328554-11328562 chr8:11328552-11328559 chr8:11328550-11328561 chr8:11328551-11328560 chr8:11328551-11328561 chr8:11328551-11328560

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11322432..11325165-chr8:11325928..11329477,5	MCF-7	breast:

Variant related genes	Relation type
FAM167A	TF binding region
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11997711	1.00[AMR][1000 genomes]
rs11998211	1.00[AMR][1000 genomes]
rs57586616	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11325200-11331600	Weak transcription	Right Atrium	heart
2	chr8:11325200-11335000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:11325400-11330200	Weak transcription	Spleen	Spleen
4	chr8:11325400-11330400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:11325400-11330400	Weak transcription	Gastric	stomach
6	chr8:11325400-11331000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:11325600-11330400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:11325600-11331000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:11325600-11331600	Weak transcription	Esophagus	oesophagus
10	chr8:11325800-11330200	Weak transcription	Fetal Brain Male	brain
11	chr8:11325800-11330600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:11326000-11329600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:11326000-11332000	Weak transcription	Fetal Thymus	thymus
14	chr8:11326200-11330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:11326600-11329200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:11327600-11329400	Weak transcription	Fetal Kidney	kidney
17	chr8:11327600-11330600	Enhancers	Placenta	Placenta
18	chr8:11327800-11329000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:11328600-11329400	Enhancers	Pancreas	Pancrea
20	chr8:11328600-11330200	Strong transcription	NHEK	skin

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